Canonical Allele Identifier: PA2825206147
Gene: SMPD1 HGNC NCBI
ClinVar RCV:
RCV002013686
ClinVar Variation:
1507898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg498Pro
CA379375760
NM_000543.5:c.1493G>C